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Loss-of-function mutations of SCN10A encoding Na(V)1.8 α subunit of voltage-gated sodium channel in patients with human kidney stone disease

Human kidney stone disease (KSD) causes significant morbidity and public health burden worldwide. The etiology of KSD is heterogeneous, ranging from monogenic defects to complex interaction between genetic and environmental factors. However, the genetic defects causing KSD in the majority of affecte...

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Detalles Bibliográficos
Autores principales:	Nettuwakul, Choochai, Praditsap, Oranud, Sawasdee, Nunghathai, Rungroj, Nanyawan, Ruamyod, Katesirin, Watanapa, Wattana B., Junking, Mutita, Sangnual, Sittideth, Sritippayawan, Suchai, Cheunsuchon, Boonyarit, Chuawattana, Duangporn, Rojsatapong, Santi, Chaowagul, Wipada, Dib-Hajj, Sulayman D., Waxman, Stephen G., Yenchitsomanus, Pa-thai
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6041274/ https://www.ncbi.nlm.nih.gov/pubmed/29992996 http://dx.doi.org/10.1038/s41598-018-28623-3

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